Genome Diagnostics Laboratory (University Medical Center Utrecht), GDL-UMCU
General information
Genome Diagnostics Laboratory, GDL-UMCU
University Medical Center Utrecht
Utrecht
Utrecht
Netherlands - 3584 EA
http://www.umcutrecht.nl/en/Ziekenhuis/Professionals/Diagnostiek-aanvragen/The-Genome-Diagnostics-Section
Organization ID: 274978
University Medical Center Utrecht
Utrecht
Utrecht
Netherlands - 3584 EA
http://www.umcutrecht.nl/en/Ziekenhuis/Professionals/Diagnostiek-aanvragen/The-Genome-Diagnostics-Section
Organization ID: 274978
Personnel
- Koen van Gassen, Staff
Phone: +31 88 75 540 90
Email: K.L.I.vanGassen-2@umcutrecht.nl - Marielle van Gijn, Staff
Phone: 31 88 75 540 90
Email: m.e.vangijn@umcutrecht.nl
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 1011
Gene
Gene | Submissions | Last Updated |
---|---|---|
AARS1 | 4 | Apr 17, 2018 |
ABCG5 | 1 | Apr 17, 2018 |
ACTN2 | 1 | Apr 17, 2018 |
ACTN4 | 1 | Apr 17, 2018 |
ACVR2B | 3 | Apr 17, 2018 |
ACVRL1 | 3 | Apr 17, 2018 |
ADA | 2 | Apr 17, 2018 |
AGL | 1 | Apr 17, 2018 |
AICDA | 2 | Apr 17, 2018 |
AKAP9 | 11 | Apr 17, 2018 |
ALDH7A1 | 5 | Apr 17, 2018 |
ALG1 | 2 | Apr 17, 2018 |
ALG6 | 2 | Apr 17, 2018 |
AMH | 2 | Apr 17, 2018 |
AMHR2 | 1 | Apr 17, 2018 |
AMT | 2 | Apr 17, 2018 |
ANK1 | 6 | Apr 17, 2018 |
ANK2 | 18 | Apr 17, 2018 |
ANKRD1 | 9 | Apr 17, 2018 |
ANKRD11 | 2 | Apr 17, 2018 |
AQP2 | 1 | Apr 17, 2018 |
ARHGEF10 | 5 | Apr 17, 2018 |
ARL13B | 1 | Apr 17, 2018 |
ASL | 2 | Apr 17, 2018 |
ATM | 18 | Apr 17, 2018 |
ATXN1 | 2 | Apr 17, 2018 |
B3GAT3 | 1 | Apr 17, 2018 |
BBS1 | 3 | Apr 17, 2018 |
BBS10 | 4 | Apr 17, 2018 |
BBS12 | 6 | Apr 17, 2018 |
BBS2 | 4 | Apr 17, 2018 |
BBS7 | 2 | Apr 17, 2018 |
BBS9 | 9 | Apr 17, 2018 |
BCKDHA | 1 | Apr 17, 2018 |
BLOC1S6 | 1 | Apr 17, 2018 |
BRCA1 | 53 | Apr 17, 2018 |
BRCA2 | 144 | Apr 17, 2018 |
C11orf65 | 4 | Apr 17, 2018 |
C1QA | 1 | Apr 17, 2018 |
C1QB | 1 | Apr 17, 2018 |
C9 | 1 | Apr 17, 2018 |
CACNA1H | 5 | Apr 17, 2018 |
CACNB2 | 11 | Apr 17, 2018 |
CALR3 | 8 | Apr 17, 2018 |
CAPN3 | 2 | Apr 17, 2018 |
CASQ2 | 13 | Apr 17, 2018 |
CBS | 3 | Apr 17, 2018 |
CCM2 | 4 | Apr 17, 2018 |
CD2AP | 1 | Apr 17, 2018 |
CD40 | 1 | Apr 17, 2018 |
CD46 | 1 | Apr 17, 2018 |
CDKN1B | 1 | Apr 17, 2018 |
CHRNA2 | 1 | Apr 17, 2018 |
CHRNA4 | 2 | Apr 17, 2018 |
CPLANE1 | 3 | Apr 17, 2018 |
CPS1 | 5 | Apr 17, 2018 |
CPT1A | 1 | Apr 17, 2018 |
CSTB | 1 | Apr 17, 2018 |
CTSD | 5 | Apr 17, 2018 |
CYP24A1 | 1 | Apr 17, 2018 |
DBT | 2 | Apr 17, 2018 |
DEPDC5 | 1 | Apr 17, 2018 |
DHCR7 | 3 | Apr 17, 2018 |
DLAT | 1 | Apr 17, 2018 |
DNMT3B | 1 | Apr 17, 2018 |
DPYD | 3 | Apr 17, 2018 |
DSC2 | 16 | Apr 17, 2018 |
DSCAS | 1 | Apr 17, 2018 |
DTNA | 8 | Apr 17, 2018 |
DYNC2LI1 | 1 | Apr 17, 2018 |
EFEMP2 | 1 | Apr 17, 2018 |
ELP1 | 6 | Apr 17, 2018 |
EPG5 | 2 | Apr 17, 2018 |
ESR2 | 5 | Apr 17, 2018 |
ETFB | 1 | Apr 17, 2018 |
FA2H | 1 | Apr 17, 2018 |
FAM83H | 2 | Apr 17, 2018 |
FAS | 3 | Apr 17, 2018 |
FBN2 | 17 | Apr 17, 2018 |
FERMT3 | 1 | Apr 17, 2018 |
FGF14 | 2 | Apr 17, 2018 |
FOLR1 | 2 | Apr 17, 2018 |
FOXE1 | 2 | Apr 17, 2018 |
FOXG1 | 1 | Apr 17, 2018 |
FREM2 | 3 | Apr 17, 2018 |
G6PC1 | 1 | Apr 17, 2018 |
GATAD1 | 2 | Apr 17, 2018 |
GLRA1 | 1 | Apr 17, 2018 |
GLRB | 1 | Apr 17, 2018 |
GPHN | 2 | Apr 17, 2018 |
GRIN2A | 3 | Apr 17, 2018 |
GRIN2B | 3 | Apr 17, 2018 |
GRIP1 | 5 | Apr 17, 2018 |
GUSB | 1 | Apr 17, 2018 |
HGF | 1 | Apr 17, 2018 |
HGSNAT | 1 | Apr 17, 2018 |
HPS4 | 1 | Apr 17, 2018 |
HPS5 | 1 | Apr 17, 2018 |
IFNGR2 | 2 | Apr 17, 2018 |
IFT140 | 2 | Apr 17, 2018 |
IGHMBP2 | 3 | Apr 17, 2018 |
IL10RA | 4 | Apr 17, 2018 |
IL12RB1 | 4 | Apr 17, 2018 |
IL17RA | 1 | Apr 17, 2018 |
IRS1 | 3 | Apr 17, 2018 |
ITCH | 1 | Apr 17, 2018 |
ITK | 3 | Apr 17, 2018 |
JAK3 | 1 | Apr 17, 2018 |
JPH2 | 9 | Apr 17, 2018 |
JPH3 | 1 | Apr 17, 2018 |
KARS1 | 2 | Apr 17, 2018 |
KBTBD13 | 1 | Apr 17, 2018 |
KCNC3 | 5 | Apr 17, 2018 |
KCNE3 | 1 | Apr 17, 2018 |
KCNJ8 | 1 | Apr 17, 2018 |
KCNMA1 | 2 | Apr 17, 2018 |
KCNMA1-AS1 | 1 | Apr 17, 2018 |
KCNQ3 | 2 | Apr 17, 2018 |
KIF5A | 2 | Apr 17, 2018 |
KMT2D | 1 | Apr 17, 2018 |
KRIT1 | 4 | Apr 17, 2018 |
LAMA4 | 9 | Apr 17, 2018 |
LDLR | 2 | Apr 17, 2018 |
LEPR | 3 | Apr 17, 2018 |
LHB | 4 | Apr 17, 2018 |
LIPA | 1 | Apr 17, 2018 |
LIPT2 | 1 | Apr 17, 2018 |
LOC101928008 | 1 | Apr 17, 2018 |
LOC105371046 | 1 | Apr 17, 2018 |
LOC107303343 | 1 | Apr 17, 2018 |
LOC108663993 | 1 | Apr 17, 2018 |
LOC108663996 | 2 | Apr 17, 2018 |
LOC109029536 | 1 | Apr 17, 2018 |
LOC114827850 | 2 | Apr 17, 2018 |
LOC117038795 | 1 | Apr 17, 2018 |
LPIN2 | 4 | Apr 17, 2018 |
LRBA | 2 | Apr 17, 2018 |
LYST | 9 | Apr 17, 2018 |
MAP3K1 | 2 | Apr 17, 2018 |
MCM4 | 1 | Apr 17, 2018 |
MED25 | 1 | Apr 17, 2018 |
MFSD8 | 1 | Apr 17, 2018 |
MIB1 | 5 | Apr 17, 2018 |
MLYCD | 1 | Apr 17, 2018 |
MMUT | 3 | Apr 17, 2018 |
MRE11 | 2 | Apr 17, 2018 |
MSH2 | 2 | Apr 17, 2018 |
MSH6 | 5 | Apr 17, 2018 |
MTMR2 | 3 | Apr 17, 2018 |
MTTP | 4 | Apr 17, 2018 |
MYBPC3 | 46 | Apr 17, 2018 |
MYH11 | 21 | Apr 17, 2018 |
MYL2 | 4 | Apr 17, 2018 |
MYL3 | 2 | Apr 17, 2018 |
MYLK2 | 3 | Apr 17, 2018 |
MYO5B | 4 | Apr 17, 2018 |
MYOZ2 | 6 | Apr 17, 2018 |
MYPN | 16 | Apr 17, 2018 |
NCR1 | 2 | Apr 17, 2018 |
NDE1 | 10 | Apr 17, 2018 |
NDUFS1 | 1 | Apr 17, 2018 |
NEFH | 1 | Apr 17, 2018 |
NEK1 | 2 | Apr 17, 2018 |
NFKBIA | 1 | Apr 17, 2018 |
NGF | 1 | Apr 17, 2018 |
NGF-AS1 | 1 | Apr 17, 2018 |
NHLRC1 | 2 | Apr 17, 2018 |
NLRP12 | 3 | Apr 17, 2018 |
NLRP7 | 5 | Apr 17, 2018 |
NPC1 | 9 | Apr 17, 2018 |
NPHS1 | 4 | Apr 17, 2018 |
NSUN6 | 8 | Apr 17, 2018 |
PACS1 | 1 | Apr 17, 2018 |
PAH | 13 | Apr 17, 2018 |
PAX9 | 2 | Apr 17, 2018 |
PCCA | 1 | Apr 17, 2018 |
PCK1 | 1 | Apr 17, 2018 |
PCNT | 1 | Apr 17, 2018 |
PCSK9 | 2 | Apr 17, 2018 |
PDSS1 | 1 | Apr 17, 2018 |
PDYN | 2 | Apr 17, 2018 |
PDYN-AS1 | 2 | Apr 17, 2018 |
PHYH | 1 | Apr 17, 2018 |
PIK3R2 | 1 | Apr 17, 2018 |
PKHD1 | 7 | Apr 17, 2018 |
PKP2 | 24 | Apr 17, 2018 |
PLCB1 | 7 | Apr 17, 2018 |
PLCE1 | 7 | Apr 17, 2018 |
PLCE1-AS1 | 2 | Apr 17, 2018 |
PMM2 | 6 | Apr 17, 2018 |
PMS2 | 11 | Apr 17, 2018 |
PNKP | 7 | Apr 17, 2018 |
PNPLA6 | 1 | Apr 17, 2018 |
POLR3B | 1 | Apr 17, 2018 |
POLR3GL | 2 | Feb 6, 2019 |
PRF1 | 1 | Apr 17, 2018 |
PRICKLE2 | 1 | Apr 17, 2018 |
PRKCG | 4 | Apr 17, 2018 |
PSMB8 | 1 | Apr 17, 2018 |
RAD21 | 1 | Apr 17, 2018 |
RAD50 | 1 | Apr 17, 2018 |
RNASEH2A | 2 | Apr 17, 2018 |
RNASEH2C | 2 | Apr 17, 2018 |
ROBO2 | 2 | Apr 17, 2018 |
RUNX1 | 1 | Apr 17, 2018 |
SACS | 2 | Apr 17, 2018 |
SALL1 | 4 | Apr 17, 2018 |
SATB2 | 1 | Apr 17, 2018 |
SBDS | 3 | Apr 17, 2018 |
SBF2 | 1 | Apr 17, 2018 |
SCARF2 | 1 | Apr 17, 2018 |
SEC63 | 1 | Apr 17, 2018 |
SERPING1 | 2 | Apr 17, 2018 |
SGCG | 1 | Apr 17, 2018 |
SH3BP2 | 2 | Apr 17, 2018 |
SIX5 | 1 | Apr 17, 2018 |
SLC12A3 | 2 | Apr 17, 2018 |
SLC19A3 | 3 | Apr 17, 2018 |
SLC29A3 | 1 | Apr 17, 2018 |
SLC2A10 | 4 | Apr 17, 2018 |
SLC46A1 | 1 | Apr 17, 2018 |
SLC6A5 | 2 | Apr 17, 2018 |
SMARCAL1 | 1 | Apr 17, 2018 |
SNHG22 | 1 | Apr 17, 2018 |
SNTA1 | 3 | Apr 17, 2018 |
SP110 | 1 | Apr 17, 2018 |
SPAST | 2 | Apr 17, 2018 |
SPATA5 | 3 | Aug 3, 2015 |
SPG11 | 13 | Apr 17, 2018 |
SPG7 | 1 | Apr 17, 2018 |
SPINK5 | 2 | Apr 17, 2018 |
ST14 | 2 | Apr 17, 2018 |
STAT3 | 1 | Apr 17, 2018 |
STXBP2 | 1 | Apr 17, 2018 |
SYNE2 | 21 | Apr 17, 2018 |
SYNGAP1 | 2 | Apr 17, 2018 |
TARDBP | 2 | Apr 17, 2018 |
TBK1 | 2 | Apr 17, 2018 |
TBP | 2 | Apr 17, 2018 |
TCIRG1 | 1 | Apr 17, 2018 |
TCN2 | 1 | Apr 17, 2018 |
TCTN2 | 1 | Apr 17, 2018 |
TGFB2 | 2 | Apr 17, 2018 |
TK2 | 1 | Apr 17, 2018 |
TLR3 | 1 | Apr 17, 2018 |
TMEM138 | 1 | Apr 17, 2018 |
TMEM231 | 1 | Apr 17, 2018 |
TMPO | 3 | Apr 17, 2018 |
TNFRSF13C | 1 | Apr 17, 2018 |
TNNT1 | 1 | Apr 17, 2018 |
TPP1 | 2 | Apr 17, 2018 |
TRPM4 | 1 | Apr 17, 2018 |
TTC7A | 1 | Apr 17, 2018 |
UNC93B1 | 1 | Apr 17, 2018 |
UNG | 1 | Apr 17, 2018 |
UPB1 | 1 | Apr 17, 2018 |
UPK3A | 3 | Apr 17, 2018 |
VANGL1 | 2 | Apr 17, 2018 |
VPS13B | 15 | Apr 17, 2018 |
WDPCP | 2 | Apr 17, 2018 |
WWOX | 1 | Apr 17, 2018 |
XDH | 1 | Apr 17, 2018 |
ZDHHC24 | 2 | Apr 17, 2018 |
ZFYVE26 | 1 | Apr 17, 2018 |
ZFYVE27 | 1 | Apr 17, 2018 |
ZNF423 | 1 | Apr 17, 2018 |
Condition
Testing in GTR
Disease name | Number of tests |
---|---|
3-Methylglutaconic aciduria type 2 | 2 tests |
46,XY sex reversal, type 3 | 1 test |
ANKRD1-related dilated cardiomyopathy | 1 test |
Aarskog syndrome | 1 test |
Acne inversa, familial, 2 | 1 test |
Acquired hemoglobin H disease | 1 test |
Acromicric dysplasia | 1 test |
Acute myeloid leukemia | 1 test |
Adenylosuccinate lyase deficiency | 1 test |
Adult neuronal ceroid lipofuscinosis | 1 test |
Adult proximal spinal muscular atrophy, autosomal dominant | 1 test |
Agammaglobulinemia 2, autosomal recessive | 1 test |
Agammaglobulinemia 3, autosomal recessive | 1 test |
Agammaglobulinemia 4, autosomal recessive | 1 test |
Agammaglobulinemia 6, autosomal recessive | 1 test |
Aicardi Goutieres syndrome 1 | 1 test |
Aicardi Goutieres syndrome 2 | 1 test |
Aicardi Goutieres syndrome 3 | 1 test |
Aicardi Goutieres syndrome 4 | 1 test |
Aicardi Goutieres syndrome 5 | 1 test |
Alagille syndrome 1 | 1 test |
Alpha thalassemia-X-linked intellectual disability syndrome | 1 test |
Alpha-B crystallinopathy | 2 tests |
Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection, and autoimmunity | 1 test |
Alternating hemiplegia of childhood 1 | 1 test |
Amelogenesis imperfecta - hypoplastic autosomal dominant - local | 1 test |
Amelogenesis imperfecta type 1G | 1 test |
Amelogenesis imperfecta, hypocalcification type | 1 test |
Amelogenesis imperfecta, hypomaturation type IIA4 | 1 test |
Amelogenesis imperfecta, hypomaturation type, IIA1 | 1 test |
Amelogenesis imperfecta, hypomaturation type, IIA3 | 1 test |
Amelogenesis imperfecta, type 1E | 1 test |
Amelogenesis imperfecta, type IC | 1 test |
Amelogenesis imperfecta, type IV | 1 test |
Amyloidogenic transthyretin amyloidosis | 2 tests |
Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia | 2 tests |
Amyotrophic lateral sclerosis 17 | 1 test |
Amyotrophic lateral sclerosis 6, with or without frontotemporal dementia | 2 tests |
Amyotrophic lateral sclerosis and/or frontotemporal dementia 1 | 1 test |
Amyotrophic lateral sclerosis type 1 | 2 tests |
Amyotrophic lateral sclerosis type 10 | 2 tests |
Amyotrophic lateral sclerosis type 11 | 2 tests |
Amyotrophic lateral sclerosis type 2 | 2 tests |
Amyotrophic lateral sclerosis type 4 | 3 tests |
Amyotrophic lateral sclerosis type 8 | 2 tests |
Amyotrophic lateral sclerosis type 9 | 2 tests |
Andersen Tawil syndrome | 1 test |
Androgen resistance syndrome | 1 test |
Anemia, nonspherocytic hemolytic, due to G6PD deficiency | 1 test |
Angelman syndrome | 2 tests |
Aortic aneurysm, familial thoracic 4 | 2 tests |
Aortic aneurysm, familial thoracic 6 | 1 test |
Aortic aneurysm, familial thoracic 7 | 1 test |
Arrhythmogenic right ventricular cardiomyopathy, type 10 | 3 tests |
Arrhythmogenic right ventricular cardiomyopathy, type 11 | 3 tests |
Arrhythmogenic right ventricular cardiomyopathy, type 12 | 3 tests |
Arrhythmogenic right ventricular cardiomyopathy, type 5 | 3 tests |
Arrhythmogenic right ventricular dysplasia 8 | 3 tests |
Arrhythmogenic right ventricular dysplasia 9 | 3 tests |
Arrhythmogenic right ventricular dysplasia, familial 1 | 3 tests |
Arrhythmogenic right ventricular dysplasia, familial, 2 | 2 tests |
Arterial tortuosity syndrome | 1 test |
Ataxia-oculomotor apraxia type 1 | 1 test |
Atrial fibrillation, familial, 10 | 2 tests |
Atrial fibrillation, familial, 12 | 1 test |
Atrial fibrillation, familial, 13 | 3 tests |
Atrial fibrillation, familial, 3 | 1 test |
Atrial fibrillation, familial, 4 | 1 test |
Atrial fibrillation, familial, 9 | 1 test |
Atrial septal defect 2 | 1 test |
Atrial septal defect 3 | 2 tests |
Atrial septal defect 4 | 1 test |
Atrial septal defect 5 | 2 tests |
Atrial septal defect 7 with or without atrioventricular conduction defects | 1 test |
Atrioventricular septal defect 2 | 1 test |
Atrioventricular septal defect 3 | 1 test |
Atrioventricular septal defect 4 | 1 test |
Atypical hemolytic-uremic syndrome 2 | 1 test |
Atypical hemolytic-uremic syndrome 3 | 1 test |
Autism 15 | 1 test |
Autism, susceptibility to, X-linked 3 | 2 tests |
Autoimmune disease, syndromic multisystem | 1 test |
Autoimmune lymphoproliferative syndrome | 3 tests |
Autoimmune lymphoproliferative syndrome type 2B | 1 test |
Autoimmune lymphoproliferative syndrome, type 2A | 2 tests |
Autoinflammation, antibody deficiency, and immune dysregulation, plcg2-associated | 1 test |
Autosomal dominant distal renal tubular acidosis | 1 test |
Autosomal recessive Kenny-Caffey syndrome | 1 test |
Autosomal recessive limb-girdle muscular dystrophy type 2F | 1 test |
Autosomal recessive limb-girdle muscular dystrophy type 2G | 1 test |
Azorean disease | 1 test |
BLOOD GROUP--DIEGO SYSTEM | 1 test |
BLOOD GROUP--FROESE | 1 test |
BLOOD GROUP--SWANN SYSTEM | 1 test |
BLOOD GROUP--WALDNER TYPE | 1 test |
BLOOD GROUP--WRIGHT ANTIGEN | 1 test |
BNAR syndrome | 1 test |
Becker muscular dystrophy | 1 test |
Benign Rolandic epilepsy | 1 test |
Benign familial neonatal seizures 1 | 3 tests |
Benign familial neonatal seizures 2 | 2 tests |
Benign recurrent intrahepatic cholestasis type 2 | 1 test |
Bilateral right-sidedness sequence | 1 test |
Biotin-responsive basal ganglia disease | 1 test |
Biotinidase deficiency | 1 test |
Blau syndrome | 1 test |
Borjeson-Forssman-Lehmann syndrome | 1 test |
Branchiootic syndrome | 1 test |
Breast-ovarian cancer, familial 1 | 1 test |
Breast-ovarian cancer, familial 2 | 1 test |
Brugada syndrome 1 | 2 tests |
Brugada syndrome 2 | 1 test |
Brugada syndrome 4 | 1 test |
Brugada syndrome 5 | 3 tests |
Brugada syndrome 6 | 1 test |
Brugada syndrome 7 | 1 test |
Brugada syndrome 8 | 1 test |
Candidiasis, familial, 2 | 1 test |
Candidiasis, familial, 6 | 2 tests |
Carcinoma of pancreas | 2 tests |
Cardiac arrhythmia, ankyrin B-related | 1 test |
Cardiac conduction abnormalities | 1 test |
Cardiofaciocutaneous syndrome 1 | 1 test |
Cardiofaciocutaneous syndrome 2 | 2 tests |
Cardiofaciocutaneous syndrome 3 | 1 test |
Cardiofaciocutaneous syndrome 4 | 1 test |
Cardiomyopathy | 2 tests |
Cardiomyopathy, dilated, 2b | 1 test |
Carnitine palmitoyltransferase II deficiency, infantile | 1 test |
Carnitine palmitoyltransferase II deficiency, lethal neonatal | 1 test |
Carnitine palmitoyltransferase II deficiency, myopathic, stress-induced | 1 test |
Carpal tunnel syndrome | 1 test |
Cataract 16, multiple types | 2 tests |
Catecholaminergic polymorphic ventricular tachycardia type 1 | 2 tests |
Cd8 deficiency, familial | 1 test |
Central core myopathy | 1 test |
Cerebral cavernous malformation | 1 test |
Cerebral cavernous malformations 2 | 1 test |
Cerebral cavernous malformations 3 | 1 test |
Cerebral folate transport deficiency | 1 test |
Ceroid lipofuscinosis neuronal 2 | 1 test |
Ceroid lipofuscinosis, neuronal, 11 | 1 test |
Ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant | 1 test |
Charcot-Marie-Tooth disease type 2B1 | 2 tests |
Charcot-Marie-Tooth disease, type 4J | 1 test |
Chilblain lupus 1 | 1 test |
Chilblain lupus 2 | 1 test |
Cholestasis of pregnancy | 1 test |
Cholestasis, benign recurrent intrahepatic 1 | 1 test |
Cholestasis, intrahepatic, of pregnancy 3 | 1 test |
Cholestasis, progressive familial intrahepatic 1 | 2 tests |
Christianson syndrome | 1 test |
Chronic infantile neurological, cutaneous and articular syndrome | 2 tests |
Chédiak-Higashi syndrome | 1 test |
Classic homocystinuria | 1 test |
Cognitive impairment with or without cerebellar ataxia | 1 test |
Combined cellular and humoral immune defects with granulomas | 1 test |
Combined immunodeficiency due to ORAI1 deficiency | 1 test |
Combined immunodeficiency due to STIM1 deficiency | 1 test |
Combined immunodeficiency due to ZAP70 deficiency | 2 tests |
Combined immunodeficiency, X-linked | 1 test |
Common variable immunodeficiency 1 | 1 test |
Common variable immunodeficiency 2 | 1 test |
Common variable immunodeficiency 3 | 1 test |
Common variable immunodeficiency 4 | 1 test |
Common variable immunodeficiency 6 | 1 test |
Common variable immunodeficiency 8, with autoimmunity | 1 test |
Congenital amegakaryocytic thrombocytopenia | 1 test |
Congenital contractural arachnodactyly | 1 test |
Congenital disorder of glycosylation, type Ia | 1 test |
Congenital heart disease | 1 test |
Congenital microvillous atrophy | 1 test |
Congenital muscular dystrophy, LMNA-related | 2 tests |
Congenital muscular dystrophy-dystroglycanopathy without mental retardation, type B4 | 1 test |
Congenital muscular hypertrophy-cerebral syndrome | 1 test |
Congenital myopathy with excess of thin filaments | 2 tests |
Congenital myopathy with fiber type disproportion | 1 test |
Conotruncal heart malformations | 1 test |
Corpus callosum agenesis-abnormal genitalia syndrome | 2 tests |
Costello syndrome | 1 test |
Craniometaphyseal dysplasia, autosomal recessive | 1 test |
Creatine transporter deficiency | 1 test |
Cutis laxa, autosomal dominant 1 | 2 tests |
DOORS syndrome | 3 tests |
Danon disease | 1 test |
Deafness, autosomal dominant 10 | 1 test |
Deficiency of guanidinoacetate methyltransferase | 1 test |
Deficiency of phosphoserine phosphatase | 2 tests |
DiGeorge sequence | 1 test |
Diabetes mellitus type 1 | 1 test |
Diabetes mellitus, insulin-dependent, 10 | 3 tests |
Dilated cardiomyopathy 1A | 2 tests |
Dilated cardiomyopathy 1AA | 1 test |
Dilated cardiomyopathy 1BB | 2 tests |
Dilated cardiomyopathy 1C | 3 tests |
Dilated cardiomyopathy 1CC | 1 test |
Dilated cardiomyopathy 1DD | 1 test |
Dilated cardiomyopathy 1E | 2 tests |
Dilated cardiomyopathy 1EE | 2 tests |
Dilated cardiomyopathy 1FF | 1 test |
Dilated cardiomyopathy 1G | 1 test |
Dilated cardiomyopathy 1HH | 2 tests |
Dilated cardiomyopathy 1I | 3 tests |
Dilated cardiomyopathy 1II | 2 tests |
Dilated cardiomyopathy 1J | 1 test |
Dilated cardiomyopathy 1JJ | 1 test |
Dilated cardiomyopathy 1KK | 1 test |
Dilated cardiomyopathy 1L | 1 test |
Dilated cardiomyopathy 1M | 1 test |
Dilated cardiomyopathy 1O | 1 test |
Dilated cardiomyopathy 1P | 2 tests |
Dilated cardiomyopathy 1R | 2 tests |
Dilated cardiomyopathy 1S | 2 tests |
Dilated cardiomyopathy 1T | 1 test |
Dilated cardiomyopathy 1W | 1 test |
Dilated cardiomyopathy 1X | 1 test |
Dilated cardiomyopathy 1Y | 1 test |
Dilated cardiomyopathy 1Z | 1 test |
Dilated cardiomyopathy 2A | 1 test |
Dilated cardiomyopathy 3B | 1 test |
Dilated cardiomyopathy with woolly hair and keratoderma | 2 tests |
Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome | 2 tests |
Disorder of cardiovascular system | 1 test |
Distal arthrogryposis type 1A | 1 test |
Distal myopathy, Tateyama type | 2 tests |
Duchenne muscular dystrophy | 1 test |
Dystonia 9 | 4 tests |
Dystransthyretinemic euthyroidal hyperthyroxinemia | 1 test |
EAST syndrome | 1 test |
Early infantile epileptic encephalopathy 10 | 3 tests |
Early infantile epileptic encephalopathy 11 | 3 tests |
Early infantile epileptic encephalopathy 12 | 1 test |
Early infantile epileptic encephalopathy 13 | 1 test |
Early infantile epileptic encephalopathy 14 | 2 tests |
Early infantile epileptic encephalopathy 16 | 3 tests |
Early infantile epileptic encephalopathy 2 | 2 tests |
Early infantile epileptic encephalopathy 4 | 3 tests |
Early infantile epileptic encephalopathy 5 | 1 test |
Early infantile epileptic encephalopathy 7 | 2 tests |
Early infantile epileptic encephalopathy 8 | 2 tests |
Early infantile epileptic encephalopathy 9 | 3 tests |
Early myoclonic encephalopathy | 2 tests |
Ectopia lentis, isolated, autosomal dominant | 1 test |
Ehlers-Danlos syndrome, classic type | 1 test |
Ehlers-Danlos syndrome, musculocontractural type | 1 test |
Ehlers-Danlos syndrome, type 3 | 1 test |
Ehlers-Danlos syndrome, type 4 | 1 test |
Elevated serum creatine phosphokinase | 2 tests |
Elliptocytosis 1 | 1 test |
Elliptocytosis 2 | 1 test |
Emery-Dreifuss muscular dystrophy 1, X-linked | 1 test |
Emery-Dreifuss muscular dystrophy 2, autosomal dominant | 2 tests |
Emery-Dreifuss muscular dystrophy 7, autosomal dominant | 2 tests |
Encephalopathy, acute, infection-induced, 3, suceptibility to | 1 test |
Encephalopathy, acute, infection-induced, 4, susceptibility to | 1 test |
Epidermal nevus syndrome | 1 test |
Epilepsy with grand mal seizures on awakening | 2 tests |
Epilepsy, X-linked, with variable learning disabilities and behavior disorders | 1 test |
Epilepsy, childhood absence 2 | 1 test |
Epilepsy, childhood absence 5 | 1 test |
Epilepsy, childhood absence 6 | 1 test |
Epilepsy, focal, with speech disorder and with or without mental retardation | 3 tests |
Epilepsy, idiopathic generalized 10 | 2 tests |
Epilepsy, idiopathic generalized 8 | 1 test |
Epilepsy, idiopathic generalized 9 | 1 test |
Epilepsy, idiopathic generalized, susceptibility to, 12 | 4 tests |
Epilepsy, juvenile absence, susceptibility to, 1 | 1 test |
Epilepsy, juvenile myoclonic 5 | 1 test |
Epilepsy, nocturnal frontal lobe, 5 | 2 tests |
Epilepsy, nocturnal frontal lobe, type 1 | 2 tests |
Epilepsy, nocturnal frontal lobe, type 3 | 2 tests |
Epilepsy, nocturnal frontal lobe, type 4 | 1 test |
Epilepsy, progressive myoclonic 3 | 2 tests |
Epilepsy, progressive myoclonic 4, with or without renal failure | 1 test |
Epilepsy, progressive myoclonic 5 | 1 test |
Epilepsy, progressive myoclonic 6 | 1 test |
Epileptic encephalopathy, childhood-onset | 1 test |
Epileptic encephalopathy, early infantile, 1 | 3 tests |
Episodic ataxia type 1 | 1 test |
Episodic ataxia type 2 | 3 tests |
Episodic ataxia, type 5 | 1 test |
Episodic kinesigenic dyskinesia 1 | 2 tests |
FG syndrome 1 | 1 test |
Fabry disease | 1 test |
Familial Mediterranean fever | 2 tests |
Familial acne inversa 1 | 1 test |
Familial amyloid nephropathy with urticaria AND deafness | 1 test |
Familial cold autoinflammatory syndrome 2 | 2 tests |
Familial cold autoinflammatory syndrome 3 | 1 test |
Familial cold urticaria | 2 tests |
Familial febrile seizures 8 | 1 test |
Familial hemiplegic migraine type 1 | 3 tests |
Familial hemiplegic migraine type 2 | 1 test |
Familial hemiplegic migraine type 3 | 3 tests |
Familial hemophagocytic lymphohistiocytosis 2 | 2 tests |
Familial hemophagocytic lymphohistiocytosis 3 | 2 tests |
Familial hemophagocytic lymphohistiocytosis 4 | 2 tests |
Familial hyperaldosteronism type 3 | 1 test |
Familial hypertrophic cardiomyopathy 1 | 2 tests |
Familial hypertrophic cardiomyopathy 10 | 1 test |
Familial hypertrophic cardiomyopathy 11 | 2 tests |
Familial hypertrophic cardiomyopathy 12 | 1 test |
Familial hypertrophic cardiomyopathy 13 | 1 test |
Familial hypertrophic cardiomyopathy 14 | 2 tests |
Familial hypertrophic cardiomyopathy 15 | 1 test |
Familial hypertrophic cardiomyopathy 16 | 1 test |
Familial hypertrophic cardiomyopathy 17 | 1 test |
Familial hypertrophic cardiomyopathy 18 | 3 tests |
Familial hypertrophic cardiomyopathy 19 | 1 test |
Familial hypertrophic cardiomyopathy 2 | 1 test |
Familial hypertrophic cardiomyopathy 20 | 1 test |
Familial hypertrophic cardiomyopathy 3 | 2 tests |
Familial hypertrophic cardiomyopathy 4 | 2 tests |
Familial hypertrophic cardiomyopathy 6 | 1 test |
Familial hypertrophic cardiomyopathy 7 | 1 test |
Familial hypertrophic cardiomyopathy 8 | 1 test |
Familial hypertrophic cardiomyopathy 9 | 1 test |
Familial hypokalemia-hypomagnesemia | 1 test |
Familial hypoplastic, glomerulocystic kidney | 1 test |
Familial keratoacanthoma | 1 test |
Familial mediterranean fever, autosomal dominant | 1 test |
Familial partial lipodystrophy 2 | 2 tests |
Familial platelet disorder with associated myeloid malignancy | 1 test |
Familial restrictive cardiomyopathy 1 | 1 test |
Familial restrictive cardiomyopathy 3 | 1 test |
Familial temporal lobe epilepsy 1 | 1 test |
Fanconi anemia, complementation group D1 | 1 test |
Farber disease | 1 test |
Febrile seizures, familial, 4 | 1 test |
Fibrous dysplasia of jaw | 1 test |
Focal segmental glomerulosclerosis 1 | 1 test |
Focal segmental glomerulosclerosis 3, susceptibility to | 1 test |
Fraser syndrome 1 | 3 tests |
Friedreich ataxia 1 | 1 test |
Frontotemporal dementia | 1 test |
Fukuyama congenital muscular dystrophy | 1 test |
GLUT1 deficiency syndrome 1 | 4 tests |
GLUT1 deficiency syndrome 2 | 4 tests |
Geleophysic dysplasia 2 | 1 test |
Generalized epilepsy with febrile seizures plus, type 1 | 3 tests |
Generalized epilepsy with febrile seizures plus, type 2 | 3 tests |
Generalized epilepsy with febrile seizures plus, type 7 | 2 tests |
Gingival fibromatosis 1 | 1 test |
Glioma susceptibility 3 | 1 test |
Glycogen storage disease of heart, lethal congenital | 1 test |
Graft-versus-host disease, susceptibility to | 1 test |
Griscelli syndrome type 2 | 1 test |
Grn-related frontotemporal lobar degeneration with Tdp43 inclusions | 1 test |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive | 1 test |
HSD10 disease | 1 test |
Heart-hand syndrome, Slovenian type | 2 tests |
Hemophagocytic lymphohistiocytosis, familial, 5 | 2 tests |
Hereditary nonpolyposis colorectal cancer type 6 | 1 test |
Hereditary pyropoikilocytosis | 1 test |
Hereditary spastic paraplegia 2 | 1 test |
Hermansky-Pudlak syndrome 2 | 1 test |
Herpes simplex encephalitis 2 | 1 test |
Heterotaxy, visceral, 1, X-linked | 1 test |
Heterotaxy, visceral, 2, autosomal | 1 test |
Heterotaxy, visceral, 4, autosomal | 1 test |
Hirschsprung disease 3 | 1 test |
Histiocytic medullary reticulosis | 1 test |
Holt-Oram syndrome | 2 tests |
Homocystinuria due to methylene tetrahydrofolate reductase deficiency | 1 test |
Hutchinson-Gilford syndrome | 2 tests |
Hydatidiform mole, recurrent, 1 | 1 test |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant | 2 tests |
Hyper-IgM syndrome type 2 | 2 tests |
Hyper-IgM syndrome type 3 | 2 tests |
Hyper-IgM syndrome type 5 | 1 test |
Hyperekplexia 1 | 1 test |
Hyperekplexia 2 | 1 test |
Hyperimmunoglobulin D with periodic fever | 2 tests |
Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive | 3 tests |
Hypertrichotic osteochondrodysplasia Cantu type | 2 tests |
Hypertrophic cardiomyopathy 25 | 1 test |
Hypocalcemia, autosomal dominant 1 | 1 test |
Hypocalciuric hypercalcemia, familial, type 1 | 1 test |
Hypoparathyroidism-deafness-renal disease syndrome | 1 test |
Hypoparathyroidism-retardation-dysmorphism syndrome | 1 test |
Hypoplastic left heart syndrome 1 | 1 test |
Hypoplastic left heart syndrome 2 | 1 test |
Hypospadias 1, X-linked | 1 test |
Hypothyroidism, congenital, nongoitrous, 5 | 1 test |
Idiopathic generalized epilepsy | 1 test |
Immune deficiency disease | 1 test |
Immunodeficiency 31C | 2 tests |
Immunodeficiency 51 | 2 tests |
Immunodeficiency 8 | 1 test |
Immunodeficiency due to defect in CD3-gamma | 1 test |
Immunodeficiency due to defect in cd3-epsilon | 1 test |
Immunoglobulin A deficiency 2 | 1 test |
Immunoglobulin m, level of | 1 test |
Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 1 | 1 test |
Indifference to pain, congenital, autosomal recessive | 2 tests |
Infantile convulsions and choreoathetosis | 2 tests |
Infantile-onset ascending hereditary spastic paralysis | 1 test |
Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations | 1 test |
Inflammatory bowel disease 25, autosomal recessive | 2 tests |
Inflammatory bowel disease 28, autosomal recessive | 2 tests |
Insulin-dependent diabetes mellitus secretory diarrhea syndrome | 1 test |
Intellectual disability | 1 test |
Interleukin 2 receptor, alpha, deficiency of | 3 tests |
Jervell and Lange-Nielsen syndrome 1 | 1 test |
Jervell and Lange-Nielsen syndrome 2 | 1 test |
Joubert syndrome 10 | 1 test |
Juvenile myoclonic epilepsy | 1 test |
Juvenile primary lateral sclerosis | 1 test |
Kennedy disease | 1 test |
Keratosis palmoplantaris striata II | 2 tests |
LEOPARD syndrome 1 | 1 test |
LEOPARD syndrome 2 | 1 test |
LEOPARD syndrome 3 | 1 test |
Lafora disease | 1 test |
Left ventricular noncompaction 1 | 1 test |
Left ventricular noncompaction 10 | 2 tests |
Left ventricular noncompaction 6 | 1 test |
Leptin deficiency or dysfunction | 1 test |
Leptin receptor deficiency | 1 test |
Lethal acantholytic epidermolysis bullosa | 2 tests |
Lethal tight skin contracture syndrome | 2 tests |
Lig4 syndrome | 1 test |
Limb-girdle muscular dystrophy, type 1B | 2 tests |
Limb-girdle muscular dystrophy, type 2J | 1 test |
Limb-girdle muscular dystrophy-dystroglycanopathy, type C4 | 1 test |
Lissencephaly 2, X-linked | 2 tests |
Lissencephaly, X-linked | 1 test |
Loeys-Dietz syndrome 1 | 1 test |
Loeys-Dietz syndrome 2 | 1 test |
Loeys-Dietz syndrome 3 | 1 test |
Loeys-Dietz syndrome 4 | 1 test |
Loeys-Dietz syndrome 5 | 2 tests |
Long QT syndrome 1 | 1 test |
Long QT syndrome 10 | 1 test |
Long QT syndrome 11 | 1 test |
Long QT syndrome 13 | 1 test |
Long QT syndrome 3 | 2 tests |
Long QT syndrome 5 | 1 test |
Long QT syndrome 6 | 1 test |
Long QT syndrome 9 | 2 tests |
Low phospholipid associated cholelithiasis | 1 test |
Lung carcinoma | 1 test |
Lymphoproliferative syndrome 1, X-linked | 1 test |
Lymphoproliferative syndrome 2, X-linked | 2 tests |
MASS syndrome | 1 test |
MYH7-related late-onset scapuloperoneal muscular dystrophy | 2 tests |
Majeed syndrome | 1 test |
Malignant hyperthermia, susceptibility to, 1 | 1 test |
Mandibuloacral dysplasia with type A lipodystrophy | 2 tests |
Marfan syndrome | 1 test |
Medulloblastoma | 1 test |
Mental retardation 17, X-linked | 1 test |
Mental retardation 30, X-linked | 1 test |
Mental retardation X-linked with cerebellar hypoplasia and distinctive facial appearance | 1 test |
Mental retardation and microcephaly with pontine and cerebellar hypoplasia | 1 test |
Mental retardation, X-linked 72 | 1 test |
Mental retardation, X-linked 96 | 1 test |
Mental retardation, X-linked, syndromic 10 | 1 test |
Mental retardation, X-linked, syndromic 13 | 2 tests |
Mental retardation, X-linked, syndromic, Hedera type | 1 test |
Mental retardation, X-linked, syndromic, wu type | 1 test |
Mental retardation, autosomal dominant 1 | 1 test |
Mental retardation, autosomal dominant 2 | 2 tests |
Mental retardation, autosomal dominant 5 | 2 tests |
Mental retardation, autosomal dominant 6 | 2 tests |
Mental retardation, autosomal dominant 7 | 1 test |
Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations | 3 tests |
Mental retardation, syndromic, Claes-Jensen type, X-linked | 1 test |
Mental retardation, with or without seizures, ARX-related, X-linked | 2 tests |
Metachondromatosis | 1 test |
Mevalonic aciduria | 1 test |
Microvascular complications of diabetes 4 | 1 test |
Minicore myopathy with external ophthalmoplegia | 1 test |
Molybdenum cofactor deficiency, complementation group C | 1 test |
Mowat-Wilson syndrome | 2 tests |
Moyamoya disease 5 | 1 test |
Multiple endocrine neoplasia, type 1 | 1 test |
Multiple endocrine neoplasia, type 2a | 1 test |
Multiple endocrine neoplasia, type 4 | 1 test |
Multiple sclerosis, susceptibility to, 5 | 1 test |
Multisystemic smooth muscle dysfunction syndrome | 1 test |
Muscular dystrophy, limb-girdle, type 2R | 3 tests |
Mycobacterial and viral infections, susceptibility to, autosomal recessive | 1 test |
Myoclonic epilepsy, familial infantile | 3 tests |
Myoclonic epilepsy, juvenile 3 | 1 test |
Myofibrillar myopathy 1 | 3 tests |
Myofibrillar myopathy 3 | 2 tests |
Myofibrillar myopathy, BAG3-related | 2 tests |
Myofibrillar myopathy, ZASP-related | 3 tests |
Myofibrillar myopathy, filamin C-related | 2 tests |
Myopathy | 1 test |
Myopathy with postural muscle atrophy, X-linked | 2 tests |
Myopathy, distal, 1 | 2 tests |
Myopathy, distal, 4 | 2 tests |
Myopathy, early-onset, with fatal cardiomyopathy | 1 test |
Myopathy, reducing body, X-linked, childhood-onset | 2 tests |
Myopathy, reducing body, X-linked, early-onset, severe | 2 tests |
Myopathy, tubular aggregate, 1 | 1 test |
Myosin storage myopathy | 2 tests |
Naxos disease | 2 tests |
Nemaline myopathy 1 | 2 tests |
Nemaline myopathy 2 | 1 test |
Nemaline myopathy 4 | 2 tests |
Nemaline myopathy 5 | 2 tests |
Nemaline myopathy 6 | 2 tests |
Nemaline myopathy 7 | 2 tests |
Neonatal severe hyperparathyroidism | 1 test |
Nephrogenic diabetes insipidus, X-linked | 1 test |
Nephrogenic diabetes insipidus, autosomal | 1 test |
Neurogenic scapuloperoneal syndrome, Kaeser type | 3 tests |
Neurohypophyseal diabetes insipidus | 1 test |
Neuronal ceroid lipofuscinosis 1 | 1 test |
Neuronal ceroid lipofuscinosis 10 | 1 test |
Neuronal ceroid lipofuscinosis 3 | 1 test |
Neuronal ceroid lipofuscinosis 4B | 1 test |
Neuronal ceroid lipofuscinosis 5 | 1 test |
Neuronal ceroid lipofuscinosis 6 | 1 test |
Neuronal ceroid lipofuscinosis 7 | 1 test |
Neuronal ceroid lipofuscinosis 8 | 1 test |
Niemann-Pick disease type C1 | 1 test |
Niemann-Pick disease, type A | 1 test |
Niemann-Pick disease, type B | 1 test |
Niemann-Pick disease, type C2 | 1 test |
Non-Hodgkin lymphoma | 1 test |
Non-ketotic hyperglycinemia | 5 tests |
Noonan syndrome 1 | 1 test |
Noonan syndrome 3 | 2 tests |
Noonan syndrome 4 | 1 test |
Noonan syndrome 5 | 1 test |
Noonan syndrome 6 | 2 tests |
Noonan syndrome 7 | 1 test |
Noonan syndrome-like disorder with loose anagen hair 1 | 1 test |
Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia | 1 test |
Obesity | 1 test |
Oculodentodigital dysplasia | 1 test |
Oculodentodigital dysplasia, autosomal recessive | 1 test |
Oculofaciocardiodental syndrome | 1 test |
Oculotrichoanal syndrome | 1 test |
Ohdo syndrome, X-linked | 1 test |
Oligodontia-colorectal cancer syndrome | 1 test |
Opioid dependence 1 | 1 test |
Orofacial cleft 10 | 1 test |
Orofacial cleft 6, susceptibility to | 1 test |
Orofaciodigital syndrome I | 1 test |
Osteomyelitis, sterile multifocal, with periostitis and pustulosis | 2 tests |
Pancreatic cancer 2 | 1 test |
Pancreatic cancer 4 | 1 test |
Parkinson-dementia syndrome | 1 test |
Parkinsonism with spasticity, X-linked | 1 test |
Paroxysmal extreme pain disorder | 2 tests |
Paroxysmal familial ventricular fibrillation 1 | 2 tests |
Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy | 1 test |
Partial androgen insensitivity syndrome | 1 test |
Partington syndrome | 2 tests |
Pelizaeus-Merzbacher disease | 1 test |
Pheochromocytoma | 2 tests |
Phosphoglycerate dehydrogenase deficiency | 1 test |
Phosphoserine aminotransferase deficiency | 2 tests |
Pick's disease | 1 test |
Pierson syndrome | 1 test |
Pitt-Hopkins syndrome | 1 test |
Pitt-Hopkins-like syndrome 1 | 1 test |
Pitt-Hopkins-like syndrome 2 | 1 test |
Polyglandular autoimmune syndrome, type 1 | 2 tests |
Porokeratosis 3, disseminated superficial actinic type | 1 test |
Primary dilated cardiomyopathy | 1 test |
Primary erythromelalgia | 2 tests |
Progressive familial heart block, type 1A | 2 tests |
Progressive familial intrahepatic cholestasis 2 | 2 tests |
Progressive familial intrahepatic cholestasis 3 | 2 tests |
Progressive myoclonus epilepsy with ataxia | 2 tests |
Progressive supranuclear ophthalmoplegia | 1 test |
Proteasome-associated autoinflammatory syndrome 1 | 2 tests |
Purine-nucleoside phosphorylase deficiency | 1 test |
Pustular psoriasis, generalized | 2 tests |
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome | 2 tests |
Pyridoxal phosphate-responsive seizures | 3 tests |
Pyridoxine-dependent epilepsy | 3 tests |
RAS-associated autoimmune leukoproliferative disorder | 2 tests |
Renal hypodysplasia/aplasia 1 | 1 test |
Renal tubular acidosis, distal, with hemolytic anemia | 1 test |
Renpenning syndrome 1 | 1 test |
Reticular dysgenesis | 1 test |
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations | 1 test |
Rett syndrome | 2 tests |
Rett syndrome, congenital variant | 3 tests |
Rh-null, regulator type | 1 test |
Rippling muscle disease 2 | 2 tests |
Rolandic epilepsy with mental retardation and speech dyspraxia, X-linked | 3 tests |
SUDDEN INFANT DEATH SYNDROME | 2 tests |
Scapuloperoneal myopathy, X-linked dominant | 2 tests |
Schizophrenia 17 | 1 test |
Seizures, benign familial infantile, 2 | 2 tests |
Seizures, benign familial infantile, 3 | 4 tests |
Selective tooth agenesis 1 | 1 test |
Severe combined immunodeficiency due to ADA deficiency | 1 test |
Severe combined immunodeficiency due to DCLRE1C deficiency | 1 test |
Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation | 1 test |
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive | 3 tests |
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-negative | 1 test |
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive | 2 tests |
Severe myoclonic epilepsy in infancy | 4 tests |
Severe neonatal-onset encephalopathy with microcephaly | 2 tests |
Short QT syndrome 1 | 1 test |
Short QT syndrome 2 | 1 test |
Short QT syndrome 3 | 1 test |
Shprintzen syndrome | 3 tests |
Sick sinus syndrome 1, autosomal recessive | 2 tests |
Sick sinus syndrome 2, autosomal dominant | 1 test |
Sick sinus syndrome 3, susceptibility to | 2 tests |
Simpson-Golabi-Behmel syndrome type 1 | 1 test |
Simpson-Golabi-Behmel syndrome, type 2 | 1 test |
Skin fragility-woolly hair-palmoplantar keratoderma syndrome | 2 tests |
Somatotroph adenoma | 1 test |
Spastic ataxia 5, autosomal recessive | 1 test |
Spherocytosis type 1 | 1 test |
Spherocytosis type 2 | 1 test |
Spherocytosis type 3 | 1 test |
Spherocytosis type 4 | 1 test |
Spherocytosis type 5 | 1 test |
Spheroid body myopathy | 2 tests |
Spinal muscular atrophy-progressive myoclonic epilepsy syndrome | 1 test |
Spinocerebellar ataxia 7 | 1 test |
Spinocerebellar ataxia type 1 | 1 test |
Spinocerebellar ataxia type 13 | 1 test |
Spinocerebellar ataxia type 14 | 1 test |
Spinocerebellar ataxia type 17 | 1 test |
Spinocerebellar ataxia type 2 | 1 test |
Spinocerebellar ataxia type 23 | 1 test |
Spinocerebellar ataxia type 27 | 1 test |
Spinocerebellar ataxia type 28 | 1 test |
Spinocerebellar ataxia type 6 | 3 tests |
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 | 2 tests |
Stiff skin syndrome | 1 test |
Supravalvar aortic stenosis | 2 tests |
Syndactyly type 3 | 1 test |
Syndromic X-linked intellectual disability Lubs type | 2 tests |
Syndromic X-linked intellectual disability Snyder type | 1 test |
Syndromic X-linked mental retardation, Cabezas type | 1 test |
TNF receptor-associated periodic fever syndrome (TRAPS) | 2 tests |
Testicular anomalies with or without congenital heart disease | 1 test |
Thrombocythemia 1 | 1 test |
Tooth agenesis, selective, 3 | 1 test |
Tooth agenesis, selective, 4 | 1 test |
Transposition of the great arteries, dextro-looped 3 | 1 test |
Tremor, hereditary essential, 4 | 1 test |
Tricho-dento-osseous syndrome | 1 test |
Trigonocephaly 2 | 1 test |
Tyrosine kinase 2 deficiency | 1 test |
Unverricht-Lundborg syndrome | 1 test |
Usher syndrome, type 2C | 1 test |
Van der Woude syndrome | 1 test |
Ventricular septal defect 1 | 1 test |
Ventricular septal defect 3 | 1 test |
Ventricular tachycardia, catecholaminergic polymorphic, 2 | 2 tests |
Visceral heterotaxy 5, autosomal | 1 test |
Von Hippel-Lindau syndrome | 1 test |
Weill-Marchesani syndrome 2 | 1 test |
Wilms tumor 1 | 1 test |
Wiskott-Aldrich syndrome | 1 test |
Wolff-Parkinson-White pattern | 1 test |
X-linked agammaglobulinemia | 2 tests |
X-linked agammaglobulinemia with growth hormone deficiency | 1 test |
X-linked intellectual disability-hypotonic face syndrome | 1 test |
X-linked mental retardation with marfanoid habitus syndrome | 1 test |
X-linked severe combined immunodeficiency | 2 tests |
Yunis-Varon syndrome | 1 test |
not provided | 1 test |
not provided | 3 tests |
not provided | 1 test |
not provided | 1 test |
not provided | 1 test |